{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T14:53:10Z","timestamp":1784299990278,"version":"3.55.0"},"reference-count":70,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,6,23]],"date-time":"2019-06-23T00:00:00Z","timestamp":1561248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Charles University Research Fund","award":["Q39"],"award-info":[{"award-number":["Q39"]}]},{"name":"Charles University Research Fund","award":["FN 00669806"],"award-info":[{"award-number":["FN 00669806"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Primary renal well\u2010differentiated neuroendocrine tumour (NET) (hereafter referred to as renal NET) is rare, with ~100 cases having been reported in the literature. There are also limited data on the molecular\u2013genetic background of primary renal NETs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>We analysed 11 renal NETs by using next\u2010generation sequencing (NGS) to identify characteristic genetic aberrations. All tumours were positive for synaptophysin, and also expressed insulinoma\u2010associated\u00a0protein 1 (10\/11), chromogranin\u2010A (8\/11), and CD56 (3\/11). Cytoplasmic positivity of CD99 was present in eight of 11 cases, and strong nuclear expression of \u03b1\u2010thalassaemia\/mental retardation syndrome X\u2010linked (ATRX) was retained in all 11 cases. Molecular\u2013genetic analysis of aberration of<jats:italic>VHL<\/jats:italic>gave negative results in all cases. Loss of heterozygosity on chromosome 3p21 was found in three of nine analysable cases. NGS was successful in nine cases, showing a total of 56 variants being left after the updated filtering process, representing an average of five variants per sample. All analysable cases were negative for<jats:italic>ATRX<\/jats:italic>and<jats:italic>DAXX<\/jats:italic>(death\u2010domain associated protein X) mutations. The most frequently mutated genes were<jats:italic>CDH1<\/jats:italic>and<jats:italic>TET2<\/jats:italic>, with three mutations in two cases. Mutations in<jats:italic>AKT3<\/jats:italic>,<jats:italic>ROS1<\/jats:italic>,<jats:italic>PIK3R2<\/jats:italic>,<jats:italic>BCR<\/jats:italic>and<jats:italic>MYC<\/jats:italic>were found in two cases. The remaining 41 genes were found to be mutated only in individual cases. In four cases, the mutations affected a subset of genes related to angiogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Overall, the mutation profile of primary renal NETs is variable, and none of the studied genes or affected pathways seems to be specific for renal NET.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.13856","type":"journal-article","created":{"date-parts":[[2019,3,9]],"date-time":"2019-03-09T20:04:26Z","timestamp":1552161866000},"page":"104-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Primary renal well\u2010differentiated neuroendocrine tumour (carcinoid): next\u2010generation sequencing study of 11 cases"],"prefix":"10.1111","volume":"75","author":[{"given":"Kristyna","family":"Pivovarcikova","sequence":"first","affiliation":[{"name":"Department of Pathology, Faculty of Medicine in Plzen Charles University in Prague Pilsen Czech 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